Duchenne muscular dystrophy is a neuromuscular disease caused by the absence of dystrophin. Diprophin is a protein present on the surface of muscle cells, where it is associated with a variety of other proteins. His main task is to unite the cell matrix and the cytoskeleton, the cell skeleton. Additionally, the protein monitors some genes linked to the pathogenesis of Duchenne's muscular dystrophy, such as oxidative stress and fibrosis.
The first symptoms of Duchenne's muscular dystrophy appear between 2 and 6 years. Children who suffer begin late to walk and usually do it on the tips. They are struggling to get up, jump and make stairs. The particular gait causes an enlarged calf and scoliosis.
As the child grows, the absence of dystrophin causes a progressive weakening of the muscle fibers. The muscles are replaced by fibrous scars incapable of contracting. Within 12 years, the death of muscle tissue involves arms and legs. Fibrosis also involves heart and respiratory muscles, resulting in cardiac and respiratory complications.
The main cause of Duchenne's muscular dystrophy is a genetic abnormality in chromosome X. For this reason, it is almost always manifested in males, which have only one copy. Females, on the other hand, are healthy carriers. In a third of cases, the anomaly is not hereditary, but caused by a new mutation.
If there are cases of family disease, it is possible to carry out prenatal screening tests to check the health of the fetus. If this is not the case, the diagnosis is performed by clinical observation and examinations that test muscle conditions. Ultimately, molecular analysis of the dystrophin gene is crucial for a muscle tissue sample.
At the moment there is no cure. However, there are treatments that improve the quality of life of patients